DisGeNET - a database of gene-disease associations

List of shared variants

Coronary Artery Disease, C1956346

Disease: Metabolic Syndrome X

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10920501		0.827	0.120	1	190092815	downstream gene variant	A/T	snv		0.18	5
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv		0.49	14
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv			17
rs3737787	TSTD1 ; USF1	0.763	0.280	1	161039733	3 prime UTR variant	G/A	snv		0.21	11
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs80356814	LMNA	0.732	0.320	1	156138697	synonymous variant	C/T	snv	8.0E-06		15
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12
rs2943634		0.763	0.200	2	226203364	intergenic variant	A/C;G	snv			15
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	18
rs7566605	LOC107985940	0.752	0.320	2	118078449	regulatory region variant	C/G	snv		0.70	11
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs17300539	ADIPOQ	0.752	0.320	3	186841671	upstream gene variant	G/A	snv		5.3E-02	11
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121